Incidental Mutation 'R7144:Zfat'
ID 553673
Institutional Source Beutler Lab
Gene Symbol Zfat
Ensembl Gene ENSMUSG00000022335
Gene Name zinc finger and AT hook domain containing
Synonyms LOC380993, Zfp406, Zfat1
MMRRC Submission 045328-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7144 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68050631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 797 (T797S)
Ref Sequence ENSEMBL: ENSMUSP00000125257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]
AlphaFold Q7TS63
Predicted Effect probably benign
Transcript: ENSMUST00000160248
AA Change: T797S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: T797S

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 220 236 N/A INTRINSIC
ZnF_C2H2 271 293 1.47e-3 SMART
ZnF_C2H2 299 321 1.18e-2 SMART
ZnF_C2H2 326 349 2.36e-2 SMART
ZnF_C2H2 354 377 4.4e-2 SMART
ZnF_C2H2 404 426 1.67e-2 SMART
ZnF_C2H2 432 454 1.33e-1 SMART
ZnF_C2H2 458 481 2.05e-2 SMART
low complexity region 601 617 N/A INTRINSIC
ZnF_C2H2 737 759 1.43e-1 SMART
ZnF_C2H2 765 788 3.52e-1 SMART
ZnF_C2H2 793 817 5.59e-4 SMART
ZnF_C2H2 825 848 3.83e-2 SMART
ZnF_C2H2 875 898 3.95e1 SMART
ZnF_C2H2 904 926 6.88e-4 SMART
ZnF_C2H2 932 954 8.94e-3 SMART
ZnF_C2H2 961 983 2.27e-4 SMART
ZnF_C2H2 989 1012 9.3e-1 SMART
ZnF_C2H2 1036 1059 5.21e-4 SMART
low complexity region 1073 1082 N/A INTRINSIC
low complexity region 1139 1149 N/A INTRINSIC
low complexity region 1218 1236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162054
AA Change: T790S

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: T790S

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 213 229 N/A INTRINSIC
ZnF_C2H2 264 286 1.47e-3 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
ZnF_C2H2 319 342 2.36e-2 SMART
ZnF_C2H2 347 370 4.4e-2 SMART
ZnF_C2H2 397 419 1.67e-2 SMART
ZnF_C2H2 425 447 1.33e-1 SMART
ZnF_C2H2 451 474 2.05e-2 SMART
low complexity region 594 610 N/A INTRINSIC
ZnF_C2H2 730 752 1.43e-1 SMART
ZnF_C2H2 758 781 3.52e-1 SMART
ZnF_C2H2 786 810 5.59e-4 SMART
ZnF_C2H2 818 841 3.83e-2 SMART
ZnF_C2H2 868 891 3.95e1 SMART
ZnF_C2H2 897 919 6.88e-4 SMART
ZnF_C2H2 925 947 8.94e-3 SMART
ZnF_C2H2 954 976 2.27e-4 SMART
ZnF_C2H2 982 1005 9.3e-1 SMART
ZnF_C2H2 1029 1052 5.21e-4 SMART
low complexity region 1121 1131 N/A INTRINSIC
low complexity region 1200 1218 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162173
AA Change: T797S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: T797S

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 220 236 N/A INTRINSIC
ZnF_C2H2 271 293 1.47e-3 SMART
ZnF_C2H2 299 321 1.18e-2 SMART
ZnF_C2H2 326 349 2.36e-2 SMART
ZnF_C2H2 354 377 4.4e-2 SMART
ZnF_C2H2 404 426 1.67e-2 SMART
ZnF_C2H2 432 454 1.33e-1 SMART
ZnF_C2H2 458 481 2.05e-2 SMART
low complexity region 601 617 N/A INTRINSIC
ZnF_C2H2 737 759 1.43e-1 SMART
ZnF_C2H2 765 788 3.52e-1 SMART
ZnF_C2H2 793 817 5.59e-4 SMART
ZnF_C2H2 825 848 3.83e-2 SMART
ZnF_C2H2 875 898 3.95e1 SMART
ZnF_C2H2 904 926 6.88e-4 SMART
ZnF_C2H2 932 954 8.94e-3 SMART
ZnF_C2H2 961 983 2.27e-4 SMART
ZnF_C2H2 989 1012 9.3e-1 SMART
ZnF_C2H2 1036 1059 5.21e-4 SMART
low complexity region 1133 1151 N/A INTRINSIC
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (95/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,032,796 (GRCm39) I272F possibly damaging Het
Adcy10 G T 1: 165,337,939 (GRCm39) M184I probably benign Het
Aldoa G T 7: 126,396,034 (GRCm39) T124N possibly damaging Het
Ap4e1 T A 2: 126,853,727 (GRCm39) I55N probably damaging Het
Arhgap21 T C 2: 20,870,198 (GRCm39) T913A probably benign Het
Atrnl1 G A 19: 58,030,784 (GRCm39) E1309K probably damaging Het
BC034090 A T 1: 155,117,777 (GRCm39) C114S probably damaging Het
Brinp2 A G 1: 158,122,994 (GRCm39) probably null Het
Ccn4 T A 15: 66,784,879 (GRCm39) V184E probably damaging Het
Ccna1 G T 3: 54,953,120 (GRCm39) H408Q probably benign Het
Cd209g T G 8: 4,185,189 (GRCm39) probably benign Het
Cdc20b A G 13: 113,219,905 (GRCm39) I433V probably benign Het
Cdk2ap1 G A 5: 124,492,421 (GRCm39) P5L probably damaging Het
Cep128 T C 12: 91,260,933 (GRCm39) E310G probably damaging Het
Cflar G T 1: 58,793,007 (GRCm39) V458F Het
Clec4b2 A G 6: 123,158,343 (GRCm39) T70A probably benign Het
Cntnap5c A G 17: 58,593,883 (GRCm39) T741A probably benign Het
Csf3r A T 4: 125,937,515 (GRCm39) T800S probably benign Het
Csnk1g2 T C 10: 80,473,733 (GRCm39) Y67H probably damaging Het
Cyp2c67 A T 19: 39,604,138 (GRCm39) V406E probably benign Het
Dnah10 A G 5: 124,900,006 (GRCm39) D3868G probably damaging Het
Dnah7a A T 1: 53,737,867 (GRCm39) probably null Het
Dst A G 1: 34,191,324 (GRCm39) N208S probably damaging Het
Echdc3 A G 2: 6,211,224 (GRCm39) probably null Het
Edrf1 T C 7: 133,239,578 (GRCm39) S13P probably benign Het
Ephb1 T C 9: 101,841,276 (GRCm39) Y734C probably damaging Het
Eps8l1 A G 7: 4,475,184 (GRCm39) Y325C probably damaging Het
Evc2 A G 5: 37,544,183 (GRCm39) D644G probably damaging Het
Eya4 A C 10: 23,048,943 (GRCm39) D54E probably benign Het
Filip1 T C 9: 79,727,495 (GRCm39) S375G possibly damaging Het
Fmo9 A G 1: 166,505,189 (GRCm39) M68T probably benign Het
Gemin5 G C 11: 58,032,489 (GRCm39) P772A probably benign Het
Gle1 T G 2: 29,833,805 (GRCm39) C401G probably damaging Het
Gm7298 A T 6: 121,738,546 (GRCm39) I376F probably damaging Het
Gpr35 A C 1: 92,910,353 (GRCm39) I22L probably benign Het
Grin2b T G 6: 135,710,474 (GRCm39) D1024A possibly damaging Het
Hmcn1 T C 1: 150,539,624 (GRCm39) N2956D probably damaging Het
Htt T C 5: 35,003,350 (GRCm39) L1275P probably damaging Het
Ibtk T C 9: 85,625,744 (GRCm39) D2G probably benign Het
Il16 T A 7: 83,295,659 (GRCm39) D1170V probably damaging Het
Iqgap3 T A 3: 88,024,217 (GRCm39) I1513N probably damaging Het
Kiz T G 2: 146,792,430 (GRCm39) probably null Het
Krt12 A T 11: 99,306,839 (GRCm39) *488K probably null Het
Lap3 A T 5: 45,654,290 (GRCm39) T83S probably benign Het
Lars2 T A 9: 123,261,058 (GRCm39) S410T probably damaging Het
Limch1 A G 5: 67,175,001 (GRCm39) T518A probably benign Het
Lrrc49 A T 9: 60,522,439 (GRCm39) S381T probably damaging Het
Lrrk2 A G 15: 91,618,258 (GRCm39) D919G possibly damaging Het
Mmp1a A T 9: 7,475,319 (GRCm39) S363C probably damaging Het
Mrps22 A C 9: 98,483,524 (GRCm39) probably null Het
Mybpc3 T C 2: 90,964,949 (GRCm39) I1066T probably benign Het
Myo10 A T 15: 25,724,011 (GRCm39) N215I probably damaging Het
Myocd A C 11: 65,109,474 (GRCm39) L99R probably damaging Het
Nadk T G 4: 155,673,793 (GRCm39) I394S probably damaging Het
Nadsyn1 T C 7: 143,364,952 (GRCm39) N251S probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapd2 G A 6: 125,153,633 (GRCm39) P694L probably benign Het
Or2ag1 T A 7: 106,473,075 (GRCm39) I126F probably damaging Het
Or2w3b A C 11: 58,623,571 (GRCm39) L140R probably damaging Het
Or4a71 T C 2: 89,357,901 (GRCm39) I284M probably damaging Het
Or5t16 G T 2: 86,819,164 (GRCm39) R119S probably damaging Het
Pcdhb13 T A 18: 37,576,309 (GRCm39) I229K probably damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Phactr3 A G 2: 177,944,529 (GRCm39) N409S probably damaging Het
Pik3c2g C A 6: 139,606,868 (GRCm39) P305Q probably damaging Het
Pik3r4 G A 9: 105,527,783 (GRCm39) V379M probably damaging Het
Pira12 A G 7: 3,900,615 (GRCm39) V45A probably damaging Het
Pkd1l2 A T 8: 117,802,870 (GRCm39) C250* probably null Het
Pramel14 A C 4: 143,718,103 (GRCm39) S447A probably benign Het
Rapgef6 A C 11: 54,548,191 (GRCm39) T792P possibly damaging Het
Rexo5 A G 7: 119,404,414 (GRCm39) D170G probably damaging Het
Rnf17 G A 14: 56,749,789 (GRCm39) probably null Het
Septin11 A G 5: 93,304,725 (GRCm39) I181V probably benign Het
Serpina1e T G 12: 103,913,277 (GRCm39) *414C probably null Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3bp2 A G 5: 34,718,975 (GRCm39) N560S probably benign Het
Slc25a25 A G 2: 32,309,178 (GRCm39) F221S probably damaging Het
Spag17 G T 3: 99,934,717 (GRCm39) probably null Het
Sspn T C 6: 145,906,881 (GRCm39) L104P probably damaging Het
St18 A C 1: 6,903,818 (GRCm39) E693A probably damaging Het
St6galnac3 T C 3: 153,117,169 (GRCm39) I185V possibly damaging Het
St8sia1 T C 6: 142,822,395 (GRCm39) D156G probably damaging Het
Syne2 C A 12: 76,052,152 (GRCm39) S4092R probably benign Het
Tll1 T A 8: 64,577,979 (GRCm39) D76V possibly damaging Het
Tmco1 C T 1: 167,136,022 (GRCm39) probably benign Het
Tnfaip3 T A 10: 18,883,029 (GRCm39) T179S probably benign Het
Trav16 T C 14: 53,981,096 (GRCm39) I95T possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Unc79 A G 12: 103,108,885 (GRCm39) M2166V probably benign Het
Vmn2r1 A G 3: 63,997,362 (GRCm39) I339M probably damaging Het
Vwa5b1 A G 4: 138,332,742 (GRCm39) probably null Het
Washc4 A T 10: 83,409,638 (GRCm39) probably null Het
Wiz A G 17: 32,576,602 (GRCm39) S642P possibly damaging Het
Zeb2 T A 2: 45,000,053 (GRCm39) K60N possibly damaging Het
Zfp74 T C 7: 29,634,590 (GRCm39) K373E probably damaging Het
Zswim5 T C 4: 116,833,173 (GRCm39) probably null Het
Other mutations in Zfat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Zfat APN 15 68,042,071 (GRCm39) missense possibly damaging 0.92
IGL00862:Zfat APN 15 68,130,512 (GRCm39) splice site probably null
IGL01021:Zfat APN 15 68,042,015 (GRCm39) missense possibly damaging 0.50
IGL01152:Zfat APN 15 67,982,353 (GRCm39) missense probably damaging 1.00
IGL01733:Zfat APN 15 68,052,579 (GRCm39) missense probably damaging 1.00
IGL01873:Zfat APN 15 68,096,744 (GRCm39) missense probably benign 0.00
IGL01990:Zfat APN 15 68,096,666 (GRCm39) missense probably damaging 1.00
IGL02066:Zfat APN 15 68,052,678 (GRCm39) missense probably damaging 1.00
IGL02664:Zfat APN 15 68,052,570 (GRCm39) missense probably damaging 1.00
IGL02955:Zfat APN 15 68,052,963 (GRCm39) missense probably damaging 0.98
IGL03201:Zfat APN 15 68,037,758 (GRCm39) missense probably damaging 1.00
R0145:Zfat UTSW 15 68,058,948 (GRCm39) missense possibly damaging 0.95
R0408:Zfat UTSW 15 68,052,141 (GRCm39) missense probably benign 0.10
R0633:Zfat UTSW 15 68,052,652 (GRCm39) missense probably damaging 1.00
R1147:Zfat UTSW 15 68,084,432 (GRCm39) splice site probably benign
R1508:Zfat UTSW 15 68,050,600 (GRCm39) missense probably damaging 1.00
R1513:Zfat UTSW 15 68,084,529 (GRCm39) missense probably damaging 1.00
R1641:Zfat UTSW 15 68,051,959 (GRCm39) missense probably benign 0.19
R1889:Zfat UTSW 15 67,973,388 (GRCm39) missense probably benign 0.00
R1959:Zfat UTSW 15 68,018,392 (GRCm39) missense probably benign 0.32
R2030:Zfat UTSW 15 67,990,783 (GRCm39) critical splice donor site probably null
R2202:Zfat UTSW 15 68,051,709 (GRCm39) missense probably benign 0.36
R2340:Zfat UTSW 15 67,973,390 (GRCm39) missense probably damaging 0.99
R3440:Zfat UTSW 15 67,956,402 (GRCm39) missense probably benign 0.00
R3442:Zfat UTSW 15 67,973,430 (GRCm39) missense probably damaging 0.99
R3442:Zfat UTSW 15 67,956,402 (GRCm39) missense probably benign 0.00
R4406:Zfat UTSW 15 68,052,040 (GRCm39) missense probably benign 0.00
R4649:Zfat UTSW 15 68,056,325 (GRCm39) missense probably damaging 1.00
R4710:Zfat UTSW 15 68,052,131 (GRCm39) missense probably benign
R4712:Zfat UTSW 15 67,982,324 (GRCm39) critical splice donor site probably null
R4745:Zfat UTSW 15 68,052,223 (GRCm39) missense probably benign 0.09
R4862:Zfat UTSW 15 68,051,959 (GRCm39) missense probably benign 0.02
R5015:Zfat UTSW 15 68,050,762 (GRCm39) missense probably damaging 1.00
R5075:Zfat UTSW 15 68,052,079 (GRCm39) missense probably benign
R5208:Zfat UTSW 15 68,052,570 (GRCm39) missense probably damaging 1.00
R5277:Zfat UTSW 15 68,037,758 (GRCm39) missense probably damaging 1.00
R5303:Zfat UTSW 15 67,982,335 (GRCm39) missense probably damaging 1.00
R5328:Zfat UTSW 15 68,051,677 (GRCm39) missense probably damaging 0.99
R5642:Zfat UTSW 15 68,052,765 (GRCm39) missense probably damaging 1.00
R5659:Zfat UTSW 15 67,990,862 (GRCm39) missense probably damaging 1.00
R5947:Zfat UTSW 15 68,051,806 (GRCm39) missense probably benign
R6046:Zfat UTSW 15 68,052,626 (GRCm39) missense probably damaging 0.99
R6315:Zfat UTSW 15 67,956,311 (GRCm39) missense probably damaging 1.00
R6342:Zfat UTSW 15 68,052,831 (GRCm39) missense probably damaging 1.00
R6573:Zfat UTSW 15 68,037,703 (GRCm39) missense probably damaging 1.00
R6789:Zfat UTSW 15 67,956,235 (GRCm39) missense probably damaging 1.00
R7028:Zfat UTSW 15 68,052,301 (GRCm39) missense probably damaging 1.00
R7033:Zfat UTSW 15 68,052,864 (GRCm39) missense probably damaging 1.00
R7039:Zfat UTSW 15 68,052,211 (GRCm39) missense probably benign
R7065:Zfat UTSW 15 68,052,969 (GRCm39) missense probably damaging 1.00
R7208:Zfat UTSW 15 68,051,856 (GRCm39) missense probably benign 0.39
R7330:Zfat UTSW 15 68,084,600 (GRCm39) missense probably benign 0.00
R7345:Zfat UTSW 15 67,976,892 (GRCm39) missense probably damaging 1.00
R7378:Zfat UTSW 15 68,052,969 (GRCm39) missense probably damaging 1.00
R7405:Zfat UTSW 15 68,056,334 (GRCm39) missense probably damaging 1.00
R7481:Zfat UTSW 15 68,050,715 (GRCm39) nonsense probably null
R7672:Zfat UTSW 15 68,130,535 (GRCm39) start codon destroyed probably null 0.39
R7676:Zfat UTSW 15 68,096,693 (GRCm39) missense possibly damaging 0.88
R7701:Zfat UTSW 15 68,052,757 (GRCm39) nonsense probably null
R7825:Zfat UTSW 15 68,051,769 (GRCm39) missense probably benign 0.01
R8152:Zfat UTSW 15 67,973,355 (GRCm39) missense probably benign 0.23
R8404:Zfat UTSW 15 67,976,916 (GRCm39) missense probably benign 0.00
R8405:Zfat UTSW 15 68,018,410 (GRCm39) missense probably damaging 1.00
R8502:Zfat UTSW 15 67,976,916 (GRCm39) missense probably benign 0.00
R8534:Zfat UTSW 15 68,037,696 (GRCm39) missense probably damaging 1.00
R8708:Zfat UTSW 15 67,956,278 (GRCm39) missense possibly damaging 0.95
R8887:Zfat UTSW 15 68,056,315 (GRCm39) missense probably damaging 1.00
R8896:Zfat UTSW 15 68,052,519 (GRCm39) missense probably damaging 1.00
R8906:Zfat UTSW 15 67,956,404 (GRCm39) missense possibly damaging 0.81
R9117:Zfat UTSW 15 68,058,918 (GRCm39) missense probably damaging 0.98
R9137:Zfat UTSW 15 68,051,794 (GRCm39) missense probably benign 0.00
R9310:Zfat UTSW 15 67,956,250 (GRCm39) missense probably damaging 1.00
R9482:Zfat UTSW 15 68,084,652 (GRCm39) missense probably damaging 1.00
R9610:Zfat UTSW 15 68,051,655 (GRCm39) missense possibly damaging 0.58
R9611:Zfat UTSW 15 68,051,655 (GRCm39) missense possibly damaging 0.58
R9630:Zfat UTSW 15 67,990,793 (GRCm39) missense probably benign 0.37
Z1088:Zfat UTSW 15 68,058,950 (GRCm39) missense probably benign 0.00
Z1177:Zfat UTSW 15 68,051,677 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTGTGAGGCATCAAGAGGC -3'
(R):5'- AGAAACTTCCTTGTTCTCATGTGC -3'

Sequencing Primer
(F):5'- AGGGCCCTCTGTGTCTG -3'
(R):5'- GGTACCAGGTGCATTTTG -3'
Posted On 2019-05-15